Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 880-887

  Torniero, Claudia ^a   Dalla Bernardina, Bernardo ^a   Novara, Francesca ^b   Cerini, Roberto ^c   Bonaglia, Clara ^d   Pramparo, Tiziano ^b   Ciccone, Roberto ^b   Guerrini, Renzo ^e   Zuffardi, Orsetta ^b,f  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELIC IMBALANCE; ARTICLE; BRAIN SCINTISCANNING; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC TRAIT; HUMAN; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; PACHYGYRIA; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SPEECH DISORDER; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FACIAL BONES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LANGUAGE DEVELOPMENT DISORDERS; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; WILLIAMS SYNDROME;

EID: 48249149503     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.42     Document Type: Article

References (20)

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